Canonical Allele Identifier: CA2175486631

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411274G= , CM000677.2:g.48411274G=	GRCh38
NC_000015.9:g.48703471G= , CM000677.1:g.48703471G=	GRCh37
NC_000015.8:g.46490763G=	NCBI36
NG_008805.2:g.239515C= , LRG_778:g.239515C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1140C=	ENSP00000453958.2:n.*1140C=
ENST00000674301.2:c.*1845C=	ENSP00000501333.2:n.*1845C=
ENST00000682158.1:n.1713C=
ENST00000682170.1:n.2513C=
ENST00000682767.1:n.1629C=
ENST00000316623.10:c.8332C= MANE Select	ENSP00000325527.5:p.Leu2778=
ENST00000674301.1:c.3498C=	ENSP00000501333.1:n.3498C=
ENST00000316623.9:c.8332C=	ENSP00000325527.5:p.Leu2778=
ENST00000559133.5:c.3701C=
ENST00000561429.1:n.587C=
NM_000138.4:c.8332C= , LRG_778t1:c.8332C=	NP_000129.3:p.Leu2778=
NM_000138.5:c.8332C= MANE Select	NP_000129.3:p.Leu2778=